MCID: EPL230
MIFTS: 28

Epilepsy with Myoclonic-Atonic Seizures

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy with Myoclonic-Atonic Seizures

MalaCards integrated aliases for Epilepsy with Myoclonic-Atonic Seizures:

Name: Epilepsy with Myoclonic-Atonic Seizures 52
Myoclonic Astatic Epilepsy 52 54
Epilepsy with Myoclonic-Astatic Seizures 52
Epilepsy with Myoclono-Astatic Crisis 52
Myoclonic-Astatic Epilepsy 36
Doose Syndrome 52

Classifications:



External Ids:

KEGG 36 H01823

Summaries for Epilepsy with Myoclonic-Atonic Seizures

NIH Rare Diseases : 52 Epilepsy with myoclonic-atonic seizures is a rare epilepsy syndrome of early childhood. It is characterized by seizures of many different types, most often myoclonic -atonic , astatic, or generalized tonic-clonic seizures . Seizures can be followed by drop attacks, which can lead to falls and injuries. Absence seizures may occur. People with the condition may experience several seizures each day. The epilepsy may result in a delay or regression of skills. Autistic features and ataxic (poorly controlled) movements have been reported in some cases. Treatment may include valproic acid alone or with other antiepileptic drugs. Ketogenic (high fat, low carb) diet has been successful in some. Long term outlook ranges from persistent seizures that do not respond to treatment and intellectual disability , to complete seizure remission after several years and normal outcome. Changes in the SCN1A , SCN1B , GABRG2 , CHD2 , and SLC6A1 genes can cause or contribute to epilepsy with myoclonic-atonic seizures. However, in many cases the cause remains unknown. Epilepsy with myoclonic-atonic seizures can be inherited from an affected parent or occur for the first time in a family as a sporadic disease.

MalaCards based summary : Epilepsy with Myoclonic-Atonic Seizures, also known as myoclonic astatic epilepsy, is related to myoclonic-astastic epilepsy and epilepsy. An important gene associated with Epilepsy with Myoclonic-Atonic Seizures is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1). The drugs Lamotrigine and Valproic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and testes, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

KEGG : 36 Myoclonic astatic epilepsy (MAE), also known as Doose syndrome, is a generalized epilepsy syndrome of young children that includes multiple different seizure types, of which myoclonic and astatic seizures were the most prominent. The electro- encephalogram (EEG) tracings may be normal initially, but later develop a characteristic biparietal theta background rhythm, and irregularly generalized spike wave, and polyspike wave discharges. In general, children are developmentally normal before the onset of epilepsy and organic brain abnormalities are absent. Long-term prognosis varies from cessation of seizures with normal developmental outcome to intractable epilepsy with mental retardation. Favorable outcomes were reported in half to two-thirds of cases. Treatment strategies such as corticosteroids, ethosuximide, and valproate have been described as only partially effective, but newer anticonvulsants, such as levetiracetam and zonisamide, may provide additional seizure control. The most effective treatment reported to date appears to be the ketogenic diet.

Wikipedia : 74 Myoclonic astatic epilepsy (MAE), also known as myoclonic atonic epilepsy or Doose syndrome, is a... more...

Related Diseases for Epilepsy with Myoclonic-Atonic Seizures

Diseases related to Epilepsy with Myoclonic-Atonic Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 myoclonic-astastic epilepsy 32.4 SLC6A1 CHD2
2 epilepsy 30.0 SLC6A1 SCN1A CHD2
3 west syndrome 29.9 SLC6A1 SCN1A
4 epileptic encephalopathy, early infantile, 6 29.9 SLC6A1 SCN1A
5 lennox-gastaut syndrome 29.8 SCN1A CHD2
6 electroclinical syndrome 29.7 SLC6A1 SCN1A
7 epilepsy, idiopathic generalized 29.5 SLC6A1 SCN1A
8 benign epilepsy with centrotemporal spikes 29.1 SLC6A1 SCN1A CHD2
9 visual epilepsy 10.8
10 seizure disorder 10.8
11 myoclonic-atonic epilepsy 10.5
12 alacrima, achalasia, and mental retardation syndrome 10.4
13 chd2-related neurodevelopmental disorders 10.4
14 encephalopathy 10.4
15 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.4
16 encephalitis 10.4
17 inherited metabolic disorder 10.3
18 ring chromosome 20 10.3
19 ring chromosome 10.3
20 attention deficit-hyperactivity disorder 10.3
21 ataxia and polyneuropathy, adult-onset 10.3
22 autism spectrum disorder 10.3
23 status epilepticus 10.3
24 early myoclonic encephalopathy 10.3
25 myoclonus 10.3
26 sturge-weber syndrome 10.2
27 epilepsy, myoclonic juvenile 10.2
28 subacute sclerosing panencephalitis 10.2
29 nicolaides-baraitser syndrome 10.2
30 glut1 deficiency syndrome 1 10.2
31 diabetes mellitus, ketosis-prone 10.2
32 epilepsy, idiopathic generalized 12 10.2
33 early onset absence epilepsy 10.2
34 movement disease 10.2
35 epilepsy with generalized tonic-clonic seizures 10.2
36 measles 10.2
37 glucose transporter type 1 deficiency syndrome 10.2
38 limbic encephalitis 10.2
39 pseudobulbar affect 10.2
40 weber syndrome 10.2
41 aicardi syndrome 10.1
42 generalized epilepsy with febrile seizures plus 10.1
43 focal epilepsy 10.1
44 bap1 tumor predisposition syndrome 10.1
45 genetic epilepsy with febrile seizures plus 10.1
46 febrile seizures 10.1
47 myoclonic epilepsy of infancy 10.1
48 migraine, familial hemiplegic, 1 9.8 SLC6A1 SCN1A
49 childhood electroclinical syndrome 9.8 SLC6A1 SCN1A
50 childhood absence epilepsy 9.7 SLC6A1 SCN1A

Graphical network of the top 20 diseases related to Epilepsy with Myoclonic-Atonic Seizures:



Diseases related to Epilepsy with Myoclonic-Atonic Seizures

Symptoms & Phenotypes for Epilepsy with Myoclonic-Atonic Seizures

GenomeRNAi Phenotypes related to Epilepsy with Myoclonic-Atonic Seizures according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.65 CHD2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.65 CHD2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-186 9.65 SCN1A
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 9.65 CHD2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.65 SCN1A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 9.65 CHD2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.65 SCN1A
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.65 CHD2
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.65 SCN1A
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-99 9.65 SCN1A
11 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-1 9.23 SCN1A SLC6A1
12 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-2 9.23 SCN1A SLC6A1

MGI Mouse Phenotypes related to Epilepsy with Myoclonic-Atonic Seizures:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 8.8 CHD2 SCN1A SLC6A1

Drugs & Therapeutics for Epilepsy with Myoclonic-Atonic Seizures

Drugs for Epilepsy with Myoclonic-Atonic Seizures (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
2
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
3
Ethosuximide Approved Phase 3 77-67-8 3291
4 Soy Bean Phase 2, Phase 3
5 Anticonvulsants Phase 3
6 Calcium, Dietary Phase 3
7 Sodium Channel Blockers Phase 3
8 Hormones Phase 3
9 Psychotropic Drugs Phase 3
10 Antipsychotic Agents Phase 3
11 Diuretics, Potassium Sparing Phase 3
12 Neurotransmitter Agents Phase 3
13 calcium channel blockers Phase 3
14
Calcium Nutraceutical Phase 3 7440-70-2 271
15
Dronabinol Approved, Illicit Phase 1 1972-08-3 16078
16 Epidiolex Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation Of The Efficacy Of The Modified Atkins Diet In Children With Refractory Epilepsy: A Randomized Controlled Trial. Completed NCT00836836 Phase 2, Phase 3
2 A Prospective, Case-control Evaluation of Ketogenic Dietary Therapy for New-onset Childhood Absence Epilepsy Not yet recruiting NCT04274179 Phase 3 Absence epilepsy medications
3 Cannabidiol in Children With Refractory Epileptic Encephalopathy: A Phase 1 Open Label Dose Escalation Study (CARE-E) Active, not recruiting NCT03024827 Phase 1 CanniMed® 1:20
4 The Becoming of Children With Doose Syndrome Not yet recruiting NCT04048213

Search NIH Clinical Center for Epilepsy with Myoclonic-Atonic Seizures

Genetic Tests for Epilepsy with Myoclonic-Atonic Seizures

Anatomical Context for Epilepsy with Myoclonic-Atonic Seizures

MalaCards organs/tissues related to Epilepsy with Myoclonic-Atonic Seizures:

40
Brain, Eye, Testes

Publications for Epilepsy with Myoclonic-Atonic Seizures

Articles related to Epilepsy with Myoclonic-Atonic Seizures:

(show top 50) (show all 157)
# Title Authors PMID Year
1
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. 61 54
15944908 2005
2
CHD2-related epilepsy: novel mutations and new phenotypes. 61
31677157 2020
3
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures. 61
32469098 2020
4
Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies. 61
31401500 2019
5
Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy. 61
30680721 2019
6
SVD Square-root Iterated Extended Kalman Filter for Modeling of Epileptic Seizure Count Time Series with External Inputs. 61
31945973 2019
7
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. 61
31104773 2019
8
How often is antiseizure drug-free ketogenic diet therapy achieved? 61
30831398 2019
9
Genetic testing in a cohort of patients with potential epilepsy with myoclonic-atonic seizures. 61
30660939 2019
10
SYNGAP1-Related Intellectual Disability 61
30789692 2019
11
The glucose transporter type 1 (Glut1) syndromes. 61
30076047 2019
12
Adolescent-onset absence epilepsy years after resolution of childhood epilepsy with myoclonic-atonic seizures. 61
31388667 2019
13
NBEA: Developmental disease gene with early generalized epilepsy phenotypes. 61
30269351 2018
14
Diagnosis switching and outcomes in a cohort of patients with potential epilepsy with myoclonic-atonic seizures. 61
30286391 2018
15
How do we diagnose and treat epilepsy with myoclonic-atonic seizures (Doose syndrome)? Results of the Pediatric Epilepsy Research Consortium survey. 61
29729532 2018
16
Analysis of the effects of medication for the treatment of epilepsy by ensemble Iterative Extended Kalman filtering. 61
30440369 2018
17
Successful corpus callosotomy for Doose syndrome. 61
28673533 2017
18
A case of fulminant subacute sclerosing panencephalitis presenting with acute myoclonic-astatic epilepsy. 61
28617265 2017
19
Modified Atkins diet is an effective treatment for children with Doose syndrome. 61
28229464 2017
20
Epilepsy with myoclonic atonic seizures and chronic cerebellar symptoms associated with antibodies against glutamate receptors N2B and D2 in serum and cerebrospinal fluid. 61
28246062 2017
21
New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy. 61
27665729 2017
22
Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. 61
28053010 2017
23
Ketogenic Diets in the Treatment of Epilepsy. 61
28799513 2017
24
SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. 61
27600546 2016
25
Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia. 61
27648472 2016
26
The changing face of dietary therapy for epilepsy. 61
27586246 2016
27
Epileptic spasms in epilepsy with myoclonic-atonic seizures (Doose syndrome). 61
27506632 2016
28
Late-onset periodic bradycardia during vagus nerve stimulation in a pediatric patient. A new case and review of the literature. 61
27056279 2016
29
Tonic Seizure Status Epilepticus Triggered by Valproate in a Child with Doose Syndrome. 61
26979444 2016
30
Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy. 61
26818399 2016
31
Non-pharmacological medical treatment in pediatric epilepsies. 61
26993568 2016
32
Multiplex families with epilepsy: Success of clinical and molecular genetic characterization. 61
26802095 2016
33
Epilepsy with myoclonic-atonic seizures (Doose syndrome): When video-EEG polygraphy holds the key to syndrome diagnosis. 61
26958468 2016
34
Does Autoimmunity have a Role in Myoclonic Astatic Epilepsy? A Case Report of Voltage Gated Potassium Channel Mediated Seizures. 61
29308451 2016
35
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. 61
26537434 2015
36
CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures. 61
26262932 2015
37
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. 61
25865495 2015
38
When should clinicians search for GLUT1 deficiency syndrome in childhood generalized epilepsies? 61
25532859 2015
39
Paradoxical exacerbation of myoclonic-astatic seizures by levetiracetam in myoclonic astatic epilepsy. 61
25884503 2015
40
High-fat diets and seizure control in myoclonic-astatic epilepsy: a single center's experience. 61
25455059 2015
41
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION. 61
26625664 2015
42
Study of epileptic drop attacks in symptomatic epilepsy of early childhood - differences from those in myoclonic-astatic epilepsy. 61
24731746 2015
43
Efficacy and tolerability of methylprednisolone pulse therapy in childhood epilepsies other than infantile spasms. 61
25184741 2014
44
Three siblings with multiform seizures: An unusual presentation of Doose syndrome. 61
26133327 2014
45
Genetic epilepsies with febrile seizures plus: clinical spectrum of Polish patients with SCN1A mutation - preliminary report. 61
25874779 2014
46
The ketogenic diet for the treatment of myoclonic astatic epilepsy in a child with type 1 diabetes mellitus. 61
25022865 2014
47
Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy. 61
24055341 2014
48
EEG-fMRI in myoclonic astatic epilepsy (Doose syndrome). 61
24696509 2014
49
Neuroimaging and electroencephalographic changes after vagus nerve stimulation in a boy with medically intractable myoclonic astatic epilepsy. 61
23643463 2014
50
Glucose metabolism transporters and epilepsy: only GLUT1 has an established role. 61
24483274 2014

Variations for Epilepsy with Myoclonic-Atonic Seizures

Copy number variations for Epilepsy with Myoclonic-Atonic Seizures from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 33171 1 43163632 43197434 Amplification SLC2A1 Myoclonic Astatic Epilepsy

Expression for Epilepsy with Myoclonic-Atonic Seizures

Search GEO for disease gene expression data for Epilepsy with Myoclonic-Atonic Seizures.

Pathways for Epilepsy with Myoclonic-Atonic Seizures

GO Terms for Epilepsy with Myoclonic-Atonic Seizures

Cellular components related to Epilepsy with Myoclonic-Atonic Seizures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 8.96 SLC6A1 SCN1A
2 axon GO:0030424 8.62 SLC6A1 SCN1A

Sources for Epilepsy with Myoclonic-Atonic Seizures

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17 EFO
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57 OMIM via Orphanet
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63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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